Global Variome shared LOVD

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Phenotype #0000350274 Individual ID 00464212 Associated disease MD Phenotype details see paper; ..., no hospitalisation neonatal pathology; delayed motor development; no large joint contractures; creatine kinase level 2090 U/L; EMG myogenic; Diagnosis/Initial muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite MDC1A Age/Examination - Age/Diagnosis 1y Age/Onset 1d Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-02-24 19:36:55 +01:00 (CET) Date last edited 2025-02-24 19:45:44 +01:00 (CET)

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